USP9Y[gene] - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488031	Single allele	LINC00685, LOC101929148 +160 more	Duplication	Autism	GLikely pathogenic
Select item 146332	GRCh38/hg38 Yp11.32-q11.221(chrY:10679-13139461)x0	AKAP17A, AMELY +88 more	Copy number loss	See cases	GPathogenic
Select item 148481	GRCh38/hg38 Yp11.32-q11.222(chrY:10701-17951506)x0	AKAP17A, AMELY +101 more	Copy number loss	See cases	GPathogenic
Select item 146390	GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762)x0	AKAP17A, AMELY +162 more	Copy number loss	See cases	GPathogenic
Select item 146389	GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762)	AKAP17A, AMELY +162 more	Copy number loss	See cases	GPathogenic
Select item 152910	GRCh38/hg38 Yp11.31-q12(chrY:378139-57181562)x1	AKAP17A, AMELY +158 more	Copy number loss	See cases	GPathogenic
Select item 150476	GRCh38/hg38 Yp11.2-q12(chrY:2133003-56884424)x0	AMELY, BPY2 +129 more	Copy number loss	See cases	GPathogenic
Select item 151963	GRCh38/hg38 Yp11.2-q11.222(chrY:2782272-17454794)x2	FAM197Y7, FAM197Y8 +64 more	Copy number gain	See cases	GPathogenic
Select item 58793	GRCh38/hg38 Yp11.2-q11.221(chrY:2783624-13011793)x2	AMELY, DDX3Y +54 more	Copy number gain	See cases	GPathogenic
Select item 58764	GRCh38/hg38 Yp11.2-q12(chrY:2783624-26637948)x2	AMELY, BPY2 +124 more	Copy number gain	See cases	GPathogenic
Select item 146874	GRCh38/hg38 Yp11.2-q11.23(chrY:2786596-26575961)x0	TTTY3B, TTTY4 +124 more	Copy number loss	See cases	GPathogenic
Select item 58799	GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26483746)x2	FAM197Y5, FAM197Y6 +124 more	Copy number gain	See cases	GPathogenic
Select item 58798	GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26463830)x2	AMELY, BPY2 +124 more	Copy number gain	See cases	GPathogenic
Select item 57270	GRCh38/hg38 Yp11.2-q11.223(chrY:2786811-22358529)x2	AMELY, CDY2A +100 more	Copy number gain	See cases	GPathogenic
Select item 60442	GRCh38/hg38 Yp11.2-q11.223(chrY:2787210-22302412)x2	FAM197Y5, FAM197Y6 +100 more	Copy number gain	See cases	GPathogenic
Select item 57173	GRCh38/hg38 Yp11.2-q11.223(chrY:2788370-20525326)x2	TTTY2, TTTY20 +85 more	Copy number gain	See cases	GPathogenic
Select item 147693	GRCh38/hg38 Yp11.2-q11.23(chrY:2855704-24288951)x2	AMELY, BPY2 +110 more	Copy number gain	See cases	GPathogenic
Select item 144552	GRCh38/hg38 Yp11.2-q11.222(chrY:6255441-18435984)x2	AMELY, CDY2A +61 more	Copy number gain	See cases	GPathogenic
Select item 145476	GRCh38/hg38 Yp11.2-q11.23(chrY:6270281-26463761)x0	TMSB4Y, TSPY1 +112 more	Copy number loss	See cases	GPathogenic
Select item 60444	GRCh38/hg38 Yp11.2-q11.23(chrY:6478684-26574618)x2	AMELY, BPY2 +106 more	Copy number gain	See cases	GPathogenic
Select item 153414	GRCh38/hg38 Yq11.21-12(chrY:10624004-57190586)x0	BPY2, BPY2B +77 more	Copy number loss	See cases	GPathogenic
Select item 155354	GRCh38/hg38 Yq11.21-12(chrY:11680193-26653790)x4	BPY2, BPY2B +72 more	Copy number gain	See cases	GLikely pathogenic
Select item 148285	GRCh38/hg38 Yq11.21-11.221(chrY:12084990-12742051)x2	LOC106128902, TTTY15 +1 more	Copy number gain	See cases	GLikely benign
Select item 155537	GRCh38/hg38 Yq11.21-11.221(chrY:12322751-13118630)x0	DDX3Y, LOC108004538 +2 more	Copy number loss	See cases	GLikely pathogenic
Select item 149207	GRCh38/hg38 Yq11.221(chrY:12608752-13107818)x0	DDX3Y, TTTY15 +1 more	Copy number loss	See cases	GUncertain significance
Select item 154030	GRCh38/hg38 Yq11.221-12(chrY:12702930-26653790)x1	BPY2, BPY2B +70 more	Copy number gain	See cases	GPathogenic
Select item 9757	NM_004654.4(USP9Y):c.773+3_773+6del	USP9Y	Microsatellite (splice donor variant)	Spermatogenic failure, Y-linked, 2	GPathogenic
Select item 3034703	NM_004654.4(USP9Y):c.1385C>G (p.Ser462Cys)	USP9Y (S462C)	Single nucleotide variant (missense variant)	USP9Y-related disorder	GLikely benign
Select item 2661886	NM_004654.4(USP9Y):c.2661C>T (p.Leu887=)	USP9Y	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3049353	NM_004654.4(USP9Y):c.3283-6_3283-5del	USP9Y	Deletion (intron variant)	USP9Y-related disorder	GLikely benign
Select item 3026627	NM_004654.4(USP9Y):c.3433C>T (p.Arg1145Ter)	USP9Y (R1145*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 152121	GRCh38/hg38 Yq11.221(chrY:12787777-13548311)x2	DDX3Y, LOC108004538 +3 more	Copy number gain	See cases	GUncertain significance
Select item 2438504	NM_004654.4(USP9Y):c.3835C>G (p.Leu1279Val)	USP9Y (L1279V)	Single nucleotide variant (missense variant)	Spermatogenic failure, Y-linked, 2	GUncertain significance
Select item 2661887	NM_004654.4(USP9Y):c.4030A>C (p.Arg1344=)	USP9Y	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1269192	NM_004654.4(USP9Y):c.4491C>T (p.Pro1497=)	USP9Y	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2499164	NM_004654.4(USP9Y):c.4877T>C (p.Phe1626Ser)	USP9Y (F1626S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661888	NM_004654.4(USP9Y):c.5195+3A>G	USP9Y	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2661889	NM_004654.4(USP9Y):c.5473G>T (p.Asp1825Tyr)	USP9Y (D1825Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438505	NM_004654.4(USP9Y):c.5924C>T (p.Thr1975Ile)	USP9Y (T1975I)	Single nucleotide variant (missense variant)	Spermatogenic failure, Y-linked, 2	GUncertain significance
Select item 2627757	NM_004654.4(USP9Y):c.6343G>T (p.Gly2115Cys)	USP9Y (G2115C)	Single nucleotide variant (missense variant)	Spermatogenic failure, Y-linked, 2	GUncertain significance
Select item 2661890	NM_004654.4(USP9Y):c.6384C>T (p.Ser2128=)	USP9Y	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026811	NM_004654.4(USP9Y):c.6476G>A (p.Arg2159Lys)	USP9Y (R2159K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3148873	GRCh37/hg19 Yp11.31-q11.222(chrY:2650425-20609790)x2	AMELY, CDY2A +42 more	Copy number gain	not provided	GPathogenic
Select item 1808617	GRCh37/hg19 Yq11.21-12(chrY:14370813-59373566)x0	BPY2, BPY2B +47 more	Copy number loss	not provided	GPathogenic
Select item 1703659	GRCh37/hg19 Yp11.32-q12(chrY:1-59373566)	TTTY10, TTTY15 +82 more	Copy number gain	Global developmental delay	GPathogenic
Select item 1676303	GRCh37/hg19 Yq11.21-11.23(chrY:13905421-28799654)	RBMY1A1, RBMY1B +46 more	Copy number loss	not provided	GPathogenic
Select item 1676302	GRCh37/hg19 Yp11.31-q11.23(chrY:2650424-28799654)	PRORY, PRY +81 more	Copy number loss	not provided	GPathogenic
Select item 1339986	GRCh37/hg19 Yq11.21(chrY:14208221-14853229)x2	TTTY15, USP9Y	Copy number gain	not provided	GUncertain significance
Select item 870527	GRCh37/hg19 Yq11.21-11.23(chrY:13800703-28799937)x0	TTTY15, TTTY17A +46 more	Copy number loss	Male infertility	GPathogenic
Select item 870525	GRCh37/hg19 Yq11.21-11.221(chrY:14443478-15230544)x0	DDX3Y, TTTY15 +1 more	Copy number loss	Male infertility	GPathogenic
Select item 870521	GRCh37/hg19 Yq11.21-11.223(chrY:14495040-24070172)x0	CDY2A, DDX3Y +23 more	Copy number loss	Male infertility	GPathogenic
Select item 816436	GRCh37/hg19 Yq11.21(chrY:14939205-14993542)x0	USP9Y	Copy number loss	not provided	GUncertain significance
Select item 816435	GRCh37/hg19 Yq11.21-11.221(chrY:14853163-15454303)x2	UTY, DDX3Y +1 more	Copy number gain	not provided	GUncertain significance
Select item 816434	GRCh37/hg19 Yq11.21(chrY:14787490-14996799)x2	TTTY15, USP9Y	Copy number gain	not provided	GUncertain significance
Select item 816433	GRCh37/hg19 Yq11.21(chrY:14486671-15098073)x0	DDX3Y, TTTY15 +1 more	Copy number loss	not provided	GPathogenic
Select item 816432	GRCh37/hg19 Yq11.21-11.221(chrY:14443478-15230544)x3	DDX3Y, USP9Y +1 more	Copy number gain	not provided	GUncertain significance
Select item 816423	GRCh37/hg19 Yp11.32-q11.23(chrY:168546-28799937)x2	AMELY, BPY2 +81 more	Copy number gain	not provided	GPathogenic
Select item 816422	GRCh37/hg19 Yp11.32-q11.221(chrY:1-16095773)x2	AMELY, DDX3Y +38 more	Copy number gain	not provided	GPathogenic
Select item 688805	GRCh37/hg19 Yq11.21(chrY:14495040-14850302)x2	TTTY15, USP9Y	Copy number gain	not provided	GUncertain significance
Select item 686903	GRCh37/hg19 Yp11.32-q11.221(chrY:201704-15182563)x2	AMELY, DDX3Y +36 more	Copy number gain	not provided	GPathogenic
Select item 686297	GRCh37/hg19 Yp11.31-q11.222(chrY:2650140-20619847)x2	AMELY, CDY2A +42 more	Copy number gain	not provided	GPathogenic
Select item 685272	GRCh37/hg19 Yp11.32-q11.222(chrY:118546-20603124)x2	AMELY, CDY2A +42 more	Copy number gain	not provided	GPathogenic
Select item 625648	GRCh37/hg19 Yp11.32-q11.221(chrY:1640371-19565713)	AMELY, DDX3Y +41 more	Copy number gain	not provided	GPathogenic
Select item 625647	GRCh37/hg19 Yp11.32-q11.221(chrY:588444-19565713)	AMELY, DDX3Y +41 more	Copy number gain	not provided	GPathogenic
Select item 625646	GRCh37/hg19 Yp11.31-q11.223(chrY:2650278-24445033)	TMSB4Y, TSPY1 +62 more	Copy number gain	not provided	GPathogenic
Select item 564970	GRCh37/hg19 Yq11.21-12(chrY:13410538-59032808)x0	RBMY1J, RPS4Y2 +46 more	Copy number loss	not provided	GPathogenic
Select item 564969	GRCh37/hg19 Yp11.31-q11.223(chrY:2650140-24070172)x2	AMELY, CDY2A +58 more	Copy number gain	not provided	GPathogenic
Select item 564967	GRCh37/hg19 Yp11.31-q11.221(chrY:2650140-15125858)x0	AMELY, DDX3Y +36 more	Copy number loss	not provided	GPathogenic
Select item 564952	GRCh37/hg19 Yq11.21(chrY:14205589-14853229)x2	USP9Y, TTTY15	Copy number gain	not provided	GUncertain significance
Select item 564950	GRCh37/hg19 Yq11.21(chrY:14683863-15009804)x2	USP9Y, TTTY15	Copy number gain	not provided	GUncertain significance
Select item 443959	GRCh37/hg19 Yp11.31-q11.23(chrY:2650141-28799937)x0	TSPY10, TSPY2 +81 more	Copy number loss	See cases	GPathogenic
Select item 443958	GRCh37/hg19 Yp11.31-q11.23(chrY:2650141-28799937)x2	AMELY, BPY2 +81 more	Copy number gain	See cases	GUncertain significance
Select item 443056	GRCh37/hg19 Yq11.21-11.221(chrY:14844481-16824498)x0	DDX3Y, NLGN4Y +5 more	Copy number loss	See cases	GPathogenic
Select item 442867	GRCh37/hg19 Yp11.32-q12(chrY:1684070-36905226)x3	AMELY, BPY2 +81 more	Copy number gain	See cases	GUncertain significance
Select item 441997	GRCh37/hg19 Yq11.21-12(chrY:13871147-59336737)x0	BPY2, BPY2B +46 more	Copy number loss	See cases	GPathogenic
Select item 441580	GRCh37/hg19 Yp11.32-q11.23(chrY:168546-28451874)x1	AMELY, BPY2 +81 more	Copy number loss	See cases	GPathogenic
Select item 395689	GRCh37/hg19 Yp11.32-q12(chrY:20297-59356174)	AMELY, BPY2 +82 more	Copy number loss	See cases	GPathogenic
Select item 253653	GRCh37/hg19 Yp11.32-q12(chrY:100002-59353228)x2	AMELY, BPY2 +82 more	Copy number gain	See cases	GPathogenic
Select item 253625	GRCh37/hg19 Yp11.32-q12(chrY:10701-59349277)x1	AMELY, BPY2 +82 more	Copy number loss	See cases	GPathogenic
Select item 253609	GRCh37/hg19 Yp11.32-q12(chrY:126426-59353228)x2	AMELY, BPY2 +82 more	Copy number gain	See cases	GPathogenic
Select item 253556	GRCh37/hg19 Yp11.32-q11.221(chrY:100002-15906224)x2	AMELY, DDX3Y +38 more	Copy number gain	See cases	GPathogenic
Select item 253542	GRCh37/hg19 Yp11.32-q12(chrY:21267-59337042)x2	AMELY, BPY2 +81 more	Copy number gain	See cases	GPathogenic
Select item 253518	GRCh37/hg19 Yp11.32-q12(chrY:21267-59349649)x2	RBMY1J, RPS4Y1 +82 more	Copy number gain	See cases	GPathogenic
Select item 253481	GRCh37/hg19 Yp11.32-q12(chrY:126426-59349649)x2	AMELY, BPY2 +82 more	Copy number gain	See cases	GPathogenic
Select item 253428	GRCh37/hg19 Yp11.32-q12(chrY:20297-59358845)x2	TSPY3, TSPY4 +82 more	Copy number gain	See cases	GPathogenic
Select item 161065	GRCh37/hg19 Yp11.31-q12(chrY:2654852-59031480)x2	AMELY, BPY2 +81 more	Copy number gain	See cases	GPathogenic
Select item 149400	GRCh37/hg19 Yp11.31-q12(chrY:2650559-59032389)x2	AMELY, BPY2 +81 more	Copy number gain	See cases	GPathogenic
Select item 144191	GRCh37/hg19 Yp11.31-q12(chrY:2654852-59031480)x0	AMELY, BPY2 +81 more	Copy number loss	See cases	GPathogenic
Select item 144190	GRCh37/hg19 Yp11.31-q12(chrY:2654852-59031480)x3	DAZ3, DAZ4 +81 more	Copy number gain	See cases	GPathogenic
Select item 58796	GRCh37/hg19 Yp11.3-q12(chrY:2651665-59031480)x2	AMELY, BPY2 +81 more	Copy number gain	See cases	GPathogenic
Select item 57175	GRCh37/hg19 Yq11.21-12(chrY:14698756-59031480)x0	BPY2, BPY2B +46 more	Copy number loss	See cases	GPathogenic
Select item 9758	USP9Y, DEL	USP9Y	Deletion	Hypospermatogenesis, nonobstructive, Y-linked	GPathogenic

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Items: 92